Canonical Allele Identifier: CA10575598
Community Standard Title: NM_000032.5(ALAS2):c.1651_1676del (p.Ser551ProfsTer6)
Gene: ALAS2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55009269_55009294del , CM000685.2:g.55009269_55009294del GRCh38
NC_000023.10:g.55035702_55035727del , CM000685.1:g.55035702_55035727del GRCh37
NC_000023.9:g.55052427_55052452del NCBI36
NG_008983.1:g.26772_26797del
NG_012568.1:g.13923_13948del

Transcript Alleles

HGVS Amino-acid Change
NM_000032.5:c.1651_1676del MANE Select NP_000023.2:p.Ser551ProfsTer6
ENST00000650242.1:c.1651_1676del MANE Select ENSP00000497236.1:p.Ser551ProfsTer6
NM_000032.4:c.1651_1676del NP_000023.2:p.Ser551ProfsTer6
NM_001037967.3:c.1540_1565del NP_001033056.1:p.Ser514ProfsTer6
NM_001037967.4:c.1540_1565del NP_001033056.1:p.Ser514ProfsTer6
NM_001037968.3:c.1612_1637del NP_001033057.1:p.Ser538ProfsTer6
NM_001037968.4:c.1612_1637del NP_001033057.1:p.Ser538ProfsTer6
ENST00000330807.9:c.1651_1676del ENSP00000332369.5:p.Ser551ProfsTer6
ENST00000335854.8:c.1540_1565del ENSP00000337131.4:p.Ser514ProfsTer6
ENST00000396198.7:c.1612_1637del ENSP00000379501.3:p.Ser538ProfsTer6
ENST00000498636.1:n.779_804del
XM_005261995.2:c.1723_1748del XP_005262052.1:p.Ser575ProfsTer6
XM_011530771.1:c.790_815del XP_011529073.1:p.Ser264ProfsTer6
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